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Complete Information on Charcot Marie Tooth Disease

Charcot-Marie Tooth Disease is the most common neuromuscular disease in the world. It is sometimes referred to as “Hereditary Motor and Sensory Neuropathy. It is affected approximately 1 in 2,500 people in the United States. CMT affects both motor and sensory nerves. Charcot-Marie-Tooth disease most often is discovered between midchildhood and age 30. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes are also characteristic due to weakness of the small muscles in the feet.

In addition, the lower legs may take on an “inverted champagne bottle” appearance due to the loss of muscle bulk. CMT is a heterogeneous group of genetically distinct disorders. CMT type 1 is a disorder of peripheral myelination, resulting from a mutation in the peripheral myelin protein-22 (PMP22) gene. CMT type 2 primarily is a neuronal (ie, axonal) disorder, not a demyelinating disorder. CMT type 2 results in peripheral neuropathy through direct axonal death and Wallerian degeneration. CMT type 3 is characterized by infantile onset. It results in severe demyelination with delayed motor skills and is much more severe than type 1.

CMTX is an X-linked dominant disease and is caused by a point mutation in the connexin-32 gene on the X chromosome. The connexin-32 protein is uttered in Schwann cells-cells that wrap around nerve axons, making up a single segment of the myelin sheath. This protein may be involved in Schwann cell communication with the axon. Symptoms usually begin in late childhood or early adulthood. Weakness in the hands and forearms occurs in many people later in life as the disease progresses. Symptoms and progression of the disease can vary. Breathing can be affected in some; so can hearing, vision, and the neck and shoulder muscles.

There is no treatent for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and even orthopedic surgery can help patients cope with the disabling symptoms of the disease. People with CMT can also benefit from a range of special aids, equipment and home modifications depending on how they are affected by the disease. Exercises to help build stamina or increase endurance will help prevent the fatigue that results from performing everyday activities that require strength and mobility. Moderate aerobic activity can help to maintain cardiovascular fitness and overall health.

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What day will the $250 Social Security stimulus for 2009 be available?

I have yet to see a pay schedule for this stimulus. Does anyone know anything about exactly when we will see the money now that it is May?
My husband is on disability due to a rare disease and we really need the money to eat.
The letter said everyone should receive it by late May, so if some have to be mailed out, they should be coming soon?
The SSA website does not give detail as to the exact dates

I am waiting on mine my self. I asked my local office and they said they don’t know exactly the date.However they say it will be the second week of may so Id assume it will be here any day.

Launch of book ‘The Voice of 12000 Patients’ at the European Commission – Rare Disease Day 2009

PLEASE! I cant understand the Q please help me!?

THE Q:
using the example of an infectious disease such as HIV, show how simple biological facts are insufficient to explain the inabiliyt of health services to control the disease and how some roups are the subject of intentional and unintentional discrimination.

Ok, let’s break it down to chewable chunks.

You have an infectious disease HIV.

Now show how simple biological facts cannot explain why health services will have a hard time controlling the disease.

here, what are the facts about HIV. off the top of my head, I can think of what are the symptoms, how long before the symptoms show, how is it tested, who is at risk?

now with that in mind, how are some people (intentionally or not) treated bad or discriminated?

how are some people, for example African Americans, Caucasians, travelers from known infected areas, poor people, rich people, people of questionable sexual practices. how are different people (try to be specific) treated as a result of an HIV scare in your neighborhood?

hope that helps.

K-State expertise helps veterinarians control infectious disease